Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Liu, Ning; Huang, Qiuying; Li, Qingge; Zhao, Dehua; Li, Xiaole; Cui, Lixia; Bai, Ying; Feng, Yin; Kong, Xiangdong

doi:10.1186/s12881-017-0516-2

Correction
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Published: 09 January 2018

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Ning Liu¹,
Qiuying Huang²,
Qingge Li²,
Dehua Zhao³,
Xiaole Li³,
Lixia Cui⁴,
Ying Bai¹,
Yin Feng¹ &
…
Xiangdong Kong¹

BMC Medical Genetics volume 19, Article number: 6 (2018) Cite this article

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The Original Article was published on 05 October 2017

Correction

Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.Ser339Phe c.1016C>T” (as given in Number 117 of Additional file 2). Other errors were found in the original Additional file 2, which has been replaced with an updated version (see below).

Additional file 2. Spectrum of PAH gene variants in a Chinese Han population

Number	Trivial name (Protein effect)	Systematic name (DNA level)	Location	Variant type	Allele frequency (%)
1	p.S16*	c.47-48delCT	Exon 1	Deletion	0.2
2	—	c.61-3T>C	Intron 1	Splicing	0.1
3	p.Arg53His	c.158G>A	Exon 2	Missense	4.7
4	p.Arg53Cys	c.157C>T	Exon 2	Missense	0.1
5	p.Glu44del	c.131-133delAAG	Exon 2	Deletion	0.2
6	p.Glu56Asp	c.168G>T	Exon 2	Missense	0.1
7	—	c.168+2T>C	Intron 2	Splicing	0.1
8	—	c.168+5G>C	Intron 2	Splicing	0.1
9	p.Ile65Thr	c.194T>C	Exon 3	Missense	0.5
10	p.Ile65Ser	c.194T>G	Exon 3	Missense	0.2
11	p.Ser70del	c.208-210delTCT	Exon 3	Deletion	2.5
12	p.Asp75His ^△	c.223G>C	Exon 3	Missense	0.1
13	p.Tyr77*	c.231T>G	Exon 3	Nonsense	0.1
14	p.Ile94Val ^△	c.280A>G	Exon 3	Missense	0.1
15	p.Asp101Asn	c.301G>A	Exon 3	Missense	0.3
16	p.Gly103Asp	c.308G>A	Exon 3	Missense	0.2
17	p.His107Arg	c.320A>G	Exon 3	Missense	1.8
18	p.Arg111*	c.331C>T	Exon 3	Nonsense	4.4
19	p.Glu78Phefs*13	c.232-235delGAAT	Exon 3	Deletion	0.1
20	p.Ile95del	c.284-286deTCA	Exon 3	Deletion	0.1
21	IVS3-2A>G	c.353-2A>G	Intron3	Splicing	0.1
22	p.Pro147Leu	c.440C>T	Exon 4	Missense	0.2
23	—	c.441+1G>A	Intron 4	Splicing	0.1
24	—	c.441+3G>C	Intron 4	Splicing	0.4
25	—	c.442-1G>A	Intron 4	Splicing	3.4
26	—	c.442-1G>C	Intron 4	Splicing	0.1
27	—	c.442-14C>T ^△	Intron 4	Splicing	0.1
28	p.Tyr154*^△	c.462C>A	Exon 5	Nonsense	0.1
29	p.Arg155His	c.464G>A	Exon 5	Missense	0.2
30	p.Arg156Pro	c.466G>C	Exon 5	Missense	0.2
31	p.Arg158Trp	c.472C>T	Exon 5	Missense	0.5
32	p.Arg158Gln	c.473G>A	Exon 5	Missense	0.5
33	p.Gln160*	c.478 C>T	Exon 5	Nonsense	0.2
34	p.Phe161Ser	c.482T>C	Exon 5	Missense	1.0
35	p.Ala165Asp	c.494C>A	Exon 5	Missense	0.1
36	p.Tyr166*	c.498C>G	Exon 5	Nonsense	0.6
37	p.Arg169Ser	c.505C>A	Exon 5	Missense	0.1
38	p.Arg169Cys	c.505C>T	Exon 5	Missense	0.2
39	p.Arg169His	c.506G>A	Exon 5	Missense	0.1
40	p.His170Arg	c.509A>G	Exon 5	Missense	0.1
41	p.His170Gln	c. 510T>A	Exon 5	Missense	0.3
42	*p.Arg155Valfs40** ^△	c.463delC	Exon 5	Deletion	0.1
43	—	c.509+1G>A	Intron 5	Splicing	0.1
44	—	c.510-1G>A	Intron 5	Splicing	0.1
45	—	c.510-1G>C	Intron 5	Splicing	0.1
46	p.Gly171Arg	c.511G>A	Exon 6	Missense	0.1
47	p.Gln172His	c.516G>T	Exon 6	Missense	0.1
48	p.Arg176*	c.526C>T	Exon 6	Nonsense	2.0
49	p.Glu178Lys	c.532 G>A	Exon 6	Missense	0.1
50	p.Glu183Gly	c.548A>G	Exon 6	Missense	0.1
51	p.Trp187*	c.561G>A	Exon 6	Nonsense	0.1
52	p.Trp187Arg	c.559T>C	Exon 6	Missense	0.1
53	p.Gly188Val ^△	c.563G>T	Exon 6	Missense	0.1
54	p.His201Arg	c.602A>G	Exon 6	Missense	0.1
55	p.Cys203Ser ^△	c.607T>A	Exon 6	Missense	0.1
56	p. Ex6-96A>G	c.611A>G	Exon 6	Splicing	0.1
57	p.Cys217Tyr	c.650G>A	Exon 6	Missense	0.1
58	p.Ile224Thr	c.671T>C	Exon 6	Missense	0.4
59	p.Leu227Val ^△	c.679C>G	Exon 6	Missense	0.1
60	p.Glu228Asp ^△	c.684A>C	Exon 6	Missense	0.1
61	p.Val230Ile	c.688G>A	Exon 6	Missense	0.5
62	p.Val230A	c.689T>C	Exon 6	Missense	0.1
63	p.Gln232*	c.694C>T	Exon 6	Nonsense	0.2
64	p.Phe233Leu	c.699C>A	Exon 6	Missense	0.2
65	*p.Leu194Glufs6** ^△	c.580C>GA	Exon 6	Indel	0.1
66	*p.Ser231Valfs52** ^△	c.690-691insG	Exon 6	Insertion	0.1
67	—	c.707-1G>A	Intron 6	Splicing	0.2
68	p.Arg241Cys	c.721C>T	Exon 7	Missense	4.6
69	p.Arg241His	c.722G>A	Exon 7	Missense	0.4
70	p.Arg241Leu	c.722G>T	Exon 7	Missense	0.1
71	p.Leu242Phe	c.724C>T	Exon 7	Missense	0.2
72	p.Arg243Gln	c.728G>A	Exon 7	Missense	17.7
73	p.Arg243*	c.727C>T	Exon 7	Nonsense	0.1
74	p.Val245Met	c.733G>A	Exon 7	Missense	0.1
75	p.Gly247Val	c.740G>T	Exon 7	Missense	1.5
76	p.Gly247Arg	c.739G>C	Exon 7	Missense	0.7
77	p.Ser250Phe ^△	c.749C>T	Exon 7	Missense	0.1
78	p.Arg252Gln	c.755G>A	Exon 7	Missense	0.6
79	p.Arg252Trp	c.754C>T	Exon 7	Missense	0.3
80	p.Arg252Gly	c. 754C>G	Exon 7	Missense	0.1
81	p.Arg252Pro	c.755G>C	Exon 7	Missense	0.1
82	p.Leu255Ser	c.764T>C	Exon 7	Missense	0.4
83	p.Gly257Val	c.770G>T	Exon 7	Missense	0.6
84	p.Arg261Gln	c.782G>A	Exon 7	Missense	1.7
85	p.Arg261*	c.781C>T	Exon 7	Nonsense	0.1
86	p.Phe263Leu	c.787T>C	Exon 7	Missense	0.1
87	p.Gln267Glu	c.799C>G	Exon 7	Missense	0.2
88	p.Tyr268* ^△	c.804C>A	Exon 7	Nonsense	0.1
89	p.Arg270Lys	c.809G>A	Exon 7	Missense	0.2
90	p.Arg270Ile	c. 809G>T	Exon 7	Missense	0.1
91	p.His271Arg	c.812A>G	Exon 7	Missense	0.1
92	p.Pro275Leu	c.824C>T	Exon 7	Missense	0.2
93	p.Met276Lys	c.827T>A	Exon 7	Missense	0.2
94	p.Met276Arg	c.827T>G	Exon 7	Missense	0.1
95	p.Thr278Ile	c.833C>T	Exon 7	Missense	0.1
96	p.Glu280Lys	c.838G>A	Exon 7	Missense	0.4
97	p.Pro281Arg	c.842C>G	Exon 7	Missense	0.1
98	p.Arg241Profs*100	c.722delG	Exon 7	Deletion	0.5
99	—	c.842+1G>A	Intron 7	Splicing	0.2
100	—	c.843-1G>A	Intron 7	Splicing	0.2
101	—	c.842+2T>A	Intron 7	Splicing	1.5
102	p.Val291Met	c.871G>A	Exon 8	Missense	0.1
103	p.Ala300Ser	c.898G>T	Exon 8	Missense	0.1
104	p.Ser303Pro	c.907T>C	Exon 8	Missense	0.1
105	p.Ser303Profs*38	c.907delT	Exon 8	Deletion	0.1
106	—	c.912+1G>A	Intron 8	Splicing	0.1
107	—	c.912+16T>A ^△	Intron 8	Splicing	0.1
108	—	c.913-7A>G	Intron 8	Splicing	0.2
109	p.Ser310Phe	c.929C>T	Exon 9	Missense	0.1
110	p.Ser310Cys ^△	c.929C>G	Exon 9	Missense	0.1
111	p.Gly312Val	c.935G>T	Exon 9	Missense	0.1
112	p.Pro314Thr	c.940C>A	Exon 9	Missense	0.4
113	p.Ala322Thr	c.964G>A	Exon 9	Missense	0.2
114	p.Ile324Asn	c.971T>A	Exon 10	Missense	0.4
115	p.Trp326*	c.977G>A	Exon 10	Nonsense	0.2
116	p.Phe331Ser	c.992T>C	Exon 10	Missense	0.1
117	p.Ser339Phe ^△	c.1016C>T	Exon 10	Missense	0.1
118	p.Lys341Asn ^△	c.1023G>C	Exon 10	Missense	0.1
119	p.Ala342Hisfs*58	c.1024delG	Exon 10	Deletion	0.1
120	p.Gly344Asp	c.1031G>A	Exon 10	Missense	0.1
121	p.Gly344Ser	c.1030G>A	Exon 10	Missense	0.1
122	p.Ala345Thr	c.1033G>A	Exon 10	Missense	0.1
123	p.Ser349Ala	c.1045T>G	Exon 10	Missense	0.4
124	p.Gly352Arg	c.1054G>C	Exon 10	Missense	0.1
125	p.Gln355*	c.1063C>T	Exon 10	Nonsense	0.1
126	—	c.1066-1G>T	Intron 10	Splicing	0.2
127	—	c.1066-11G>A	Intron 10	Splicing	0.1
128	—	c.1066-13delT ^△	Intron 10	Splicing	0.1
129	—	c.1066-14C>G	Intron 10	Splicing	0.1
130	p.Tyr356*	c.1068C>A	Exon 11	Nonsense	4.7
131	p.Cys357*	c.1071C>A	Exon 11	Nonsense	0.1
132	p.Pro362Ser ^△	c.1084C>T	Exon 11	Missense	0.1
133	p.Pro362Thr	c.1084C>A	Exon 11	Missense	0.1
134	p.Lys363Asn	c.1089G>T	Exon 11	Missense	0.2
135	p.Pro366Ala ^△	c.1096C>G	Exon 11	Missense	0.1
136	p.Thr372Ser	c.1114A>T	Exon 11	Missense	0.1
137	p.Thr372Arg	c.1115 C>G	Exon 11	Missense	0.1
138	p.Ala373Thr	c.1117G>A	Exon 11	Missense	0.1
139	p.Gln375Glu	c.1123C>G	Exon 11	Missense	0.3
140	p.Thr380Met	c.1139C>T	Exon 11	Missense	0.2
141	p.Val388Met	c.1162G>A	Exon 11	Missense	0.1
142	p.Ser391Thr	c.1172G>C	Exon 11	Missense	0.1
143	p.Phe392Ile	c.1174T>A	Exon 11	Missense	0.4
144	p.Lys398=	c.1194A>G	Exon 11	Splicing	0.1
145	p.Val399=	c.1197A>T	Exon 11	Splicing	6.4
146	p.Arg400Thr	c.1199G>C	Exon 11	Missense	0.5
147	p.Arg400Lys	c.1199G>A	Exon 11	Missense	0.2
148	—	c.1199+1G>C	Intron11	Splicing	0.2
149	—	c.1199+2T>C	Intron 11	Splicing	0.2
150	—	c.1200-1G>C	Intron 11	Splicing	0.1
151	—	c.1200-1G>A	Intron 11	Splicing	0.2
152	—	c.1200-3T>G ^△	Intron11	Splicing	0.2
153	p.Ala403Val	c.1208C>T	Exon 12	Missense	1.0
154	p.Arg408Trp	c.1222C>T	Exon 12	Missense	0.4
155	p.Arg408Gln	c.1223G>A	Exon 12	Missense	0.6
156	p.Arg413Pro	c.1238G>C	Exon 12	Missense	4.6
157	p.Tyr414*	c.1242C>A	Exon 12	Nonsense	0.1
158	p.Asp415Tyr	c.1243G>T	Exon 12	Missense	0.1
159	p.Thr418Pro	c.1252A>C	Exon 12	Missense	0.6
160	p.Gln419Arg	c.1256A>G	Exon 12	Missense	0.7
161	p.Ile421Thr	c.1262T>C	Exon 12	Missense	0.2
162	p.Gln429Lys	c.1285C>A	Exon 12	Missense	0.1
163	p.Leu430Pro	c.1289T>C	Exon 12	Missense	0.2
164	p.Ala434Asp	c.1301C>A	Exon 12	Missense	1.7
165	—	c.1315+4A>G	Intron 12	Splicing	0.1
166	—	c.1315+6T>A	Intron 12	Splicing	0.3
167	—	c.1316-2A>C	Intron 12	Splicing	0.2
168	p.Leu444Phe ^△	c.1330C>T	Exon 13	Missense	0.1
169	p.453Proext33	c.1357delTAAAG	Exon 13	Deletion	0.1
170			5’ UTR ~E1	Deletion	0.6
171	c.(168+1_169-1)_c. (352+1_353-1)del		E3	Deletion	0.1
172	c. (441+1_442-1)_(842+1_843-1)del		E4~E7	Deletion	0.1
173	c. (441+1_442-1) _c. (509+1_510-1)del		E5	Deletion	0.1
174	c. (441+1_442-1)_(509+1_510-1)del		E4~E5	Deletion	0.2
Detected					96.6
Unknown					3.4
Total					100

^△Novel alleles identified in the current study.

Reference

Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet. 2017;18:108. doi: 10.1186/s12881-017-0467-7.

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Authors and Affiliations

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People’s Republic of China
Ning Liu, Ying Bai, Yin Feng & Xiangdong Kong
State Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiangan Rd, Xiangan District, Xiamen, Fujian, 361102, People’s Republic of China
Qiuying Huang & Qingge Li
Neonatal Screening Center, The Third Affiliated Hospital of Zhengzhou University, Kangfu Rd, Erqi District, Zhengzhou, Henan, 450052, People’s Republic of China
Dehua Zhao & Xiaole Li
Neonatal Screening Center, Zhengzhou Maternity and Child Care Hospital, Jinshui Rd, Jinshui District, Zhengzhou, Henan, 450012, People’s Republic of China
Lixia Cui

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Ning Liu
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Qiuying Huang
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Qingge Li
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Dehua Zhao
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Xiaole Li
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Lixia Cui
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Ying Bai
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Yin Feng
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Xiangdong Kong
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Correspondence to Xiangdong Kong.

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The original article can be found online at https://doi.org/10.1186/s12881-017-0467-7.

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Liu, N., Huang, Q., Li, Q. et al. Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet 19, 6 (2018). https://doi.org/10.1186/s12881-017-0516-2

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Received: 21 December 2017
Accepted: 21 December 2017
Published: 09 January 2018
DOI: https://doi.org/10.1186/s12881-017-0516-2

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

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